A rare case: childhood-onset C3 glomerulonephritis due to homozygous factor H deficiency

Rusai, Krisztina; Zaller, Vera; Szilágyi, Ágnes; Kain, Renate; Prohászka, Zoltán; Cook, H. Terence; Aufricht, Christoph; Arbeiter, Klaus

doi:10.1007/s13730-013-0070-5

Cited by 4 publications

(5 citation statements)

References 17 publications

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“…They were otherwise normal. The latter has been seen in at least 12 families and has been implicated in both GN (membranoproliferative glomerulonephritis type I or C3G; 9 families) and aHUS (33)(34)(35)(36)(37)(38)(39).…”

Section: Discussionmentioning

confidence: 99%

C3(H2O) prevents rescue of complement-mediated C3 glomerulopathy in Cfh–/– Cfd–/– mice

Zhang¹,

Keenan²,

Dai³

et al. 2020

JCI Insight

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Section: Discussionmentioning

confidence: 99%

C3(H2O) prevents rescue of complement-mediated C3 glomerulopathy in Cfh–/– Cfd–/– mice

Zhang¹,

Keenan²,

Dai³

et al. 2020

JCI Insight

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“…Homozygous mutations in the complement factor I gene was identified as monogenic cause of small vessels vasculitis arising from immunocomplex deposition, resulting in complete absence of alternative pathway activity, decreased classical complement system activity, with low levels of serum factor I, C3, and factor H and normal C4 [41,42]. Dysregulation of complement system because of factor H defects is increasingly documented to be associated with renal diseases with a wide range of clinical and pathological patterns [43].…”

Section: Primary Complement Deficiency and Autoimmunitymentioning

confidence: 99%

Complement, infection, and autoimmunity

Conigliaro

Triggianese

Ballanti

et al. 2019

Current Opinion in Rheumatology

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Purpose of review Complement system dysfunction in terms of upregulation, downregulation, or dysregulation can create an imbalance of both host defense and inflammatory response leading to autoimmunity. In this review, we aimed at describing the role of complement system in host defense to inflection and in autoimmunity starting from the evidence from primary and secondary complement system deficiencies. Recent findings Complement system has a determinant role in defense against infections: deficiencies of complement components are associated with increased susceptibility to infections. Primary complement system deficiencies are rare disorders that predispose to both infections and autoimmune diseases. Secondary complement system deficiencies are the result of the complement system activation with consumption. Complement system role in enhancing risk of infective diseases in secondary deficiencies has been demonstrated in patients affected by systemic autoimmune disorders, mainly systemic lupus erythematosus and vasculitis. Summary The relationship between the complement system and autoimmunity appears paradoxical as both the deficiency and the activation contribute to inducing autoimmune diseases. In these conditions, the presence of complement deposition in affected tissues, decreased levels of complement proteins, and high levels of complement activation fragments in the blood and vessels have been documented.

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“…Both parents and two other children without renal disease had half-normal Cfh levels, consistent with heterozygosity. A young girl presenting with recurrent macroscopic hematuria and undetectable serum C3, Cfb, and Cfh was found to have C3GN with a mesangioproliferative pattern and predominant mesangial deposits on EM 81 . A homozygous missense mutation was detected on SCR 16 of Cfh that resulted in a cysteine to serine change.…”

Section: Pathogenesismentioning

confidence: 99%

“…A young girl presenting with recurrent macroscopic hematuria and undetectable serum C3, Cfb, and Cfh was found to have C3GN with a mesangioproliferative pattern and predominant mesangial deposits on EM. 81 A homozygous missense mutation was detected on SCR 16 of Cfh that resulted in a cysteine to serine change. Both unaffected parents were heterozygous for the Cfh mutation and displayed low-normal Cfh levels, while an unaffected sister had two normal Cfh alleles and high-normal Cfh levels.…”

Section: Pathogenesismentioning

confidence: 99%

Dense Deposit Disease and C3 Glomerulopathy

Barbour

Pickering

Cook

2013

Seminars in Nephrology

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SummaryC3 glomerulopathy refers to those renal lesions characterized histologically by predominant C3 accumulation within the glomerulus, and pathogenetically by aberrant regulation of the alternative pathway of complement. Dense deposit disease is distinguished from other forms of C3 glomerulopathy by its characteristic appearance on electron microscopy. The extent to which dense deposit disease also differs from other forms of C3 glomerulopathy in terms of clinical features, natural history, and outcomes of treatment including renal transplantation is less clear. We discuss the pathophysiology of C3 glomerulopathy, with evidence for alternative pathway dysregulation obtained from affected individuals and complement factor H (Cfh)-deficient animal models. Recent linkage studies in familial C3 glomerulopathy have shown genomic rearrangements in the Cfh-related genes, for which the novel pathophysiologic concept of Cfh deregulation has been proposed.

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A rare case: childhood-onset C3 glomerulonephritis due to homozygous factor H deficiency

Abstract: C3 glomerulopathy is a

Cited by 4 publications

References 17 publications

C3(H2O) prevents rescue of complement-mediated C3 glomerulopathy in Cfh–/– Cfd–/– mice

C3(H2O) prevents rescue of complement-mediated C3 glomerulopathy in Cfh–/– Cfd–/– mice

Complement, infection, and autoimmunity

Dense Deposit Disease and C3 Glomerulopathy

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